日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.

非综合征性口面裂风险基因位点将 tRNA 剪接缺陷与神经嵴细胞病变联系起来

Bartusel Michaela, Kim Skylar X, Rehimi Rizwan, Darnell Alicia M, Nikolić Miloš, Heggemann Julia, Kolovos Petros, van Ijcken Wilfred F J, Varineau Jade, Crispatzu Giuliano, Mangold Elisabeth, Brugmann Samantha A, Vander Heiden Matthew G, Laugsch Magdalena, Ludwig Kerstin U, Rada-Iglesias Alvaro, Calo Eliezer

SMAD5 as a novel gene for familial pulmonary arterial hypertension.

SMAD5 是家族性肺动脉高压的新基因

Cao Ding, Grünig Ekkehard, Sirenko Yuriy, Radchenko Ganna, Gall Henning, Ahmed Ayat, Theiß Susanne, Lankeit Mareike, Meder Benjamin, Laugsch Magdalena, Eichstaedt Christina A

Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.

利用抗体方法在体外和体内揭开核仁 NR2F1 定位之谜

Bertacchi Michele, Theiß Susanne, Ahmed Ayat, Eibl Michael, Loubat Agnès, Maharaux Gwendoline, Phromkrasae Wanchana, Chakrabandhu Krittalak, Camgöz Aylin, Antonaci Marco, Schaaf Christian Patrick, Studer Michèle, Laugsch Magdalena

Membrane remodelling triggers maturation of excitation-contraction coupling in 3D-shaped human-induced pluripotent stem cell-derived cardiomyocytes

膜重塑触发三维形态的人诱导多能干细胞衍生心肌细胞兴奋-收缩耦联的成熟

Kermani, Fatemeh; Mosqueira, Matias; Peters, Kyra; Lemma, Enrico D; Rapti, Kleopatra; Grimm, Dirk; Bastmeyer, Martin; Laugsch, Magdalena; Hecker, Markus; Ullrich, Nina D

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B基因变异会导致一种神经发育障碍,伴有自闭症谱系障碍、失用症和疼痛感觉缺失。

Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina G S; Signer, Rebecca H; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs

利用 BAC 转基因和基因靶向技术恢复 X 连锁慢性肉芽肿病 iPSC 中 gp91phox 氧化酶活性

Laugsch, Magdalena; Rostovskaya, Maria; Velychko, Sergiy; Richter, Cornelia; Zimmer, Ariane; Klink, Barbara; Schröck, Evelin; Haase, Michael; Neumann, Katrin; Thieme, Sebastian; Roesler, Joachim; Brenner, Sebastian; Anastassiadis, Konstantinos